title: Chronic granulomatous disease presenting as retinal mass.
abstract: 1-year-old girl was admitted for fever of unknown origin. Funduscopy revealed juxtapapillary retinal inflammatory mass in one eye with a differential diagnosis of sarcoidosis, tuberculosis, retinoblastoma or metastatic disease. Retinal biopsy showed necrotizing granulomatous retinitis. Extensive workup and therapeutic trials failed to confirm the diagnosis of tuberculosis or sarcoidosis. Her 7-month brother and 4-year-old male cousin presented with nystagmus, poor vision, paravascular pigmentary changes and were initially diagnosed as recessive retinal dystrophy. The girl died at age 2 from tuberculous meningitis and the boys had recurrent tuberculous and Aspergillus infections. Awareness of the typical fundus findings in chronic granulomatous disease allows early diagnosis of the disorder.
authors.affiliation: Department of Ophthalmology, American University of Beirut, POB 113-6044, Beirut, Lebanon. dr.ahmad@cyberia.net.lb.
authors.forename: Ahmad M
authors.initials: AM
authors.lastname: Mansour
authors.forename: Mays
authors.initials: M
authors.lastname: Al Dairy
authors.forename: Rola
authors.initials: R
authors.lastname: Hamam
authors.forename: Ahmed A
authors.initials: AA
authors.lastname: Hidayat